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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1161925216
Gene:
Linked Data
dbSNP Id:
rs1639363551
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.34523576_34523577insATACACA , CM000663.2:g.34523576_34523577insATACACA
GRCh38
NC_000001.10:g.34989177_34989178insATACACA , CM000663.1:g.34989177_34989178insATACACA
GRCh37
NC_000001.9:g.34761764_34761765insATACACA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_947171.1:n.1073+24003_1073+24004insGTGTATT
XR_001737964.1:n.991+24003_991+24004insGTGTATT
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